Canonical Allele Identifier: CA359707048
Gene: HCN1 HGNC NCBI

Linked Data

COSMIC: COSM1311171
MyVariant Identifiers: chr5:g.45645317C>A (hg19) chr5:g.45645215C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.45645215C>A , CM000667.2:g.45645215C>A GRCh38
NC_000005.9:g.45645317C>A , CM000667.1:g.45645317C>A GRCh37
NC_000005.8:g.45681074C>A NCBI36
NG_042183.1:g.55904G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303230.6:c.819G>T MANE Select ENSP00000307342.4:p.Arg273Ser
ENST00000637256.1:n.47G>T
ENST00000673735.1:c.819G>T ENSP00000501107.1:p.Arg273Ser
ENST00000303230.5:c.819G>T ENSP00000307342.4:p.Arg273Ser
ENST00000634658.1:c.819G>T ENSP00000489134.1:p.Arg273Ser
NM_021072.3:c.819G>T NP_066550.2:p.Arg273Ser
NM_021072.4:c.819G>T MANE Select NP_066550.2:p.Arg273Ser
Search 100 bp 5'
Search 100 bp 3'